Canonical Allele Identifier: CA4959652

Gene: DOCK8

Linked Data

• dbSNP Id: rs773324998
• ExAC: 9:452115 G / T
• gnomAD v2: 9-452115-G-T
• gnomAD v4: 9-452115-G-T
• MyVariant Identifiers: chr9:g.452115G>T (hg19) ; chr9:g.452115G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452115G>T , CM000671.2:g.452115G>T	GRCh38
NC_000009.11:g.452115G>T , CM000671.1:g.452115G>T	GRCh37
NC_000009.10:g.442115G>T	NCBI36
NG_017007.1:g.242251G>T , LRG_196:g.242251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5766G>T	ENSP00000371766.2:p.Met1922Ile
ENST00000683406.1:n.2541G>T
ENST00000684637.1:n.1747G>T
ENST00000685949.1:n.4854G>T
ENST00000432829.7:c.6066G>T MANE Select	ENSP00000394888.3:p.Met2022Ile
ENST00000382329.1:c.4467G>T	ENSP00000371766.1:p.Met1489Ile
ENST00000432829.6:c.6066G>T	ENSP00000394888.3:p.Met2022Ile
ENST00000453981.5:c.5862G>T	ENSP00000408464.2:p.Met1954Ile
ENST00000469391.5:c.5766G>T	ENSP00000419438.1:p.Met1922Ile
ENST00000495184.5:n.8021G>T
NM_001190458.1:c.5766G>T	NP_001177387.1:p.Met1922Ile
NM_001193536.1:c.5862G>T	NP_001180465.1:p.Met1954Ile
NM_203447.3:c.6066G>T , LRG_196t1:c.6066G>T	NP_982272.2:p.Met2022Ile
XM_011518045.1:c.5766G>T	XP_011516347.1:p.Met1922Ile
XM_011518046.1:c.5928G>T	XP_011516348.1:p.Met1976Ile
XM_011518047.1:c.5862G>T	XP_011516349.1:p.Met1954Ile
XM_011518048.1:c.5862G>T	XP_011516350.1:p.Met1954Ile
XM_011518049.1:c.4302G>T	XP_011516351.1:p.Met1434Ile
XM_011518045.3:c.5766G>T	XP_011516347.1:p.Met1922Ile
XM_011518046.2:c.5928G>T	XP_011516348.1:p.Met1976Ile
XM_011518047.3:c.5862G>T	XP_011516349.1:p.Met1954Ile
XM_011518048.2:c.5862G>T	XP_011516350.1:p.Met1954Ile
XM_011518049.2:c.4302G>T	XP_011516351.1:p.Met1434Ile
XM_017015173.1:c.5862G>T	XP_016870662.1:p.Met1954Ile
XM_017015174.1:c.5928G>T	XP_016870663.1:p.Met1976Ile
NM_001190458.2:c.5766G>T	NP_001177387.1:p.Met1922Ile
NM_001193536.2:c.5862G>T	NP_001180465.1:p.Met1954Ile
NM_203447.4:c.6066G>T MANE Select	NP_982272.2:p.Met2022Ile